Výsledky vyhledávání - Amanda Pichini
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Newborn Screening by Genomic Sequencing: Opportunities and Challenges Autor David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperavičiūtė, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott
Vydáno 2022Artigo -
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Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design Autor Amanda Pichini, Arzoo Ahmed, Christine Patch, David Bick, Mathilde Leblond, Dalia Kasperavičiūtė, Dasha Deen, Simon A. Wilde, Sofia Garcia Noriega, Christella Matoko, Alice Tuff-Lacey, Chris Wigley, Richard H. Scott
Vydáno 2022Artigo -
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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project Autor Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord
Vydáno 2022Artigo
Vyhledávací nástroje:
Související témata
Medicine
Biology
Gene
Genetics
Genome
Pathology
Computational biology
Genomics
Health care
Law
Political science
Alternative medicine
Alternative splicing
Business
Context (archaeology)
DNA sequencing
Data sharing
Engineering
Engineering ethics
Exon
General partnership
Genomic medicine
Genomic sequencing
Human genetics
Human genome
Legislation
Medical diagnosis
Newborn screening
Paleontology
Pedagogy